Heart Month 2015: We’ve come a long way but still have “miles to go before we sleep”

So many strides have been made in the management of ASCVD (atherosclerotic cardiovascular disease): our understanding of its pathophysiology, our ability to thwart an erupting heart attack, our techniques to destroy brain threatening strokes, and methods to correct valves and aneurysms through tiny holes in the body have all blossomed over the last few decades. Still many questions remain. What’s the optimal diet? Is it low fat, high fat, high protein, high complex carbs, no fat, only omega-3 fats…? How much exercise do we really need? And what’s the best form of exercise? What’s the optimal role for cardiac imaging? Who should get a bypass and who, a stent? How long should dual antiplatelet therapy continue after a drug eluting stent? What’s the optimal blood pressure? Why do men and women have such divergent responses to CVD and its therapeutic interventions? How low should we drive cholesterol levels? When is the best time to start driving these levels down? Why do we continue to have such a high residual risk of a CVD event even after seemingly doing everything right? Why is peripheral arterial disease (PAD) such a fearsome predictor of future stroke and heart attack? The list is interminable. That’s not hyperbole. And the infinite list of remaining questions is at the same time both frustrating and invigorating. Though we’d like to have all the answers and all the solutions to our woes, this never-ending list humbles us and reinforces the miracle of our being. We are truly the most fascinating and remarkable living “machines”. For today though, and this Heart month, let’s focus a moment on familial hypercholesterolemia (FH), another source of both recent advances as well as remaining controversies.

FH is a potentially devastating form of genetic high cholesterol. Its victims possess important genetic mutations that beget likely premature heart disease and lifelong angst. Parents pass the disease to their children, concomitantly bearing the crosses of guilt and fear. Many questions involving FH remain: How many undiagnosed patients are there with FH? How do we precisely distinguish HoFH from HeFH? How do we increase patients’ access to therapies such as lipoprotein apheresis, lomitapide and mipomersen when indicated? How do we choose these therapies for a given patient? After all, all patients, as all people, are different. Fortunately many are laboring to find answers to the FH questions. Leading the charge is Katherine Wilemon and the FH Foundation (FHF). Growing at an unprecedented rate and having the support of the world’s brightest FH scientific and medical minds as well as generous pharmaceutical sponsors, the foundation is spearheading programs to find those with FH so they can be properly treated. Through its website, the FHF is bringing patients together so they can find common solace. The group is also cataloguing patients with FH so scientists can better study the disease and in so doing defeat it. The list goes on.

Perhaps the best way to understand all that the foundation is doing and plans to do is for you to join us for an FH Foundation tweetathon at 8PM Thursday February 19th. Just go to #KnowFH and join the thousands of others who will be discussing what’s old, what’s new, and what’s in store for the future of those with FH. Speak to you Thursday!